ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP.
Willer T, et al. Among authors: strahl s.
Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252.
Nat Genet. 2012.
PMID: 22522420
Free PMC article.